Neimann-Pick Disorder

Neimann-Pick Disorder is one of a lysosome storage disorder that affects metabolism. It is also caused by a genetic mutation. Neimann-Pick was named after two people, Dr. Albert Neimann in 1914 (first part of disease) and Luddwick Pick (second part of disease). There is 3 most common types of Neimann-Pick Disorder: Type A, B, and C. Type A and B is also called Acid Sphingomyelinase Deficiency (ASMO). Type A and B are caused by deficiency specific enzyme acid sphingomyelinase. Neimann- Pick Disorder in incurable. Neimann-Pick disorder is a inherited disease.


Albert Neimann

Type A & B cases: 1,200 cases worldwide.

Type A:

• Type A, or NPA, causes cell death and malfunction of major organ systems.
• NPA leads to death within 2 to 4 years of age.
• NPA has no treatment and can even die in infancy.

Type B:

• Type B, or NPB, has enlarged liver and spleen.
• NPB also causes respiratory problems.
• NPB live to late childhood to adulthood.
• NPB require bone marrow transplant or gene therapy with enzyme replacement.
• People with NPB need a long period supply of oxygen.

Type C cases: 500 cases world wide.

Type C:

• People with Type C, or NPC, are not able to metabolize cholesterol and other lipids.
• Symptoms: eyes move up and down, enlarged liver, enlarged spleen, or jaundice. At age 4, symptoms come slowly. ex: learning disabilities, mild retardation, clumsiness, and delayed fine motor skills.
• Start of symptoms is few months old or late adulthood.
• Fatal cases die before age 20.
• Treatment is a low cholesterol diet.
• Die in childhood less severe is in adulthood.

References:

http://www.nnpf.org/npdisease_01.html
http://www.ninds.nih.gov/disorders/neimann/neimann.htm
http://www.niemannpick.org.uk/what-is-npd/background.html

Questions:

1. What is type A and B also called?
2. Explain type C.
3. How many cases are there for type C?
4. How did Neimann Pick Disorder get its name?

X-ray of a child with Neimann Disorder and the result of an enlarged spleen and liver.